Table 1. Characteristics of patients... | Rockefeller University Press

Table 1.

Characteristics of patients

Patient	Ethnicity/origin	Age at onset (yr)	Clinical manifestations/genetic defects	PrimeFlow: EBV⁺ subset	Histology: EBV⁺ subset
IM
Pt. 1.1	Caucasian	26	IM	Absent	NP
Pt 1.2	Caucasian	13	IM	Absent	NP
Pt 1.3	Caucasian	32	IM	Absent	NP
Pt 1.4	Sub-Saharan African	8	Severe IM (SMG and compressive lymph nodes requiring ventilation support)	CD19⁺	Tonsils and lymph node, CD79a⁺
Pt 1.5	Caucasian	23	Severe IM (SMG, thrombopenia)	CD19⁺	NP
B cell LPD
Pt 2.1	North African	7	Classical Hodgkin lymphoma	Absent	Lymph node CD30⁺CD15⁺
Pt 2.2	Caucasian	26	Classical Hodgkin lymphoma	Absent	Lymph node (EBER not performed)
Pt 2.3	Sub-Saharan African	17	Classical Hodgkin lymphoma, HLH	CD19⁺	Lymph node CD30⁺CD15⁺
Pt 2.4	Caucasian	1	Liver transplantation, PTLD, high peripheral EBV load	CD19⁺	NP
Pt S4	North African	5	Fulminant IM	CD19^−/low	Lymph node, CD79a⁺
Genetically characterized PIDs
Pt 2.5	North African	8	B-cell LPD, HMG, SMG, ADP, CD70 deficiency (TNFSF7 hmz mutation: c.535C>T/p.R179X)	CD19⁺	Lymph node, spleen, CD79a⁺
Pt 2.6	Comorian	14	Chronic peripheral EBV load without clinical LPD, ZAP-70 deficiency (ZAP70 hmz mutation: c.252C>G/p.C84W), strongly decreased protein expression	CD19⁺	NP
Pt 2.7	Caucasian	3	Chronic peripheral EBV load without clinical LPD, CTPS1 deficiency (CTPS1 hmz mutation: c.1692-1G>C/p.T566Dfs26X)	CD19⁺	NP
Pt 2.8	Caucasian	5	Primary EBV infection (ongoing), chronic hypogammaglobulinemia, MAGT1 deficiency (MAGT1 hmz mutation: c.991C>T/p;R331X), strongly decreased protein expression	CD19⁺	NP
Pt 2.9	Caucasian	16	Fulminant IM, XLP-1 (SH2D1A hemiZ mutation: c.257-264delCATTTCAG p.A86EfsX15)	CD19⁺	Liver, CD79a⁺
Pt 2.10	North-African	9	Fulminant IM, XLP-1 (SH2D1A hemizygous exons 1-4 deletion)	CD19⁺	NP
T cell PTLDs
Pt 3.1	Caucasian	2	HSCT for AML, persistent peripheral EBV load after rituximab	CD3⁺	NP
Pt 3.2	Caucasian	7	Cardiac transplantation, persistent peripheral EBV load after rituximab, hepatosplenomegaly, enlarged lymph nodes	CD8⁺	NP
Pt 3.3	Caucasian	2	Liver transplantation, persistent peripheral EBV load after rituximab, IBD	CD8⁺	Liver, bone marrow, gut CD8⁺
T/NK cell lymphomas
Pt 3.4	Caucasian	15	ENKTL, nasal type	Absent	Nasal cavity, CD3⁺CD5⁻CD56⁺
Pt 3.5	Caucasian	60	Angioimmunoblastic T cell lymphoma revealed by EBV⁺ LPD, eosinophilia with lung involvement	CD3⁻CD4⁺	Lymph node, CD3⁺CD4⁺
Pt 3.6	Caucasian	74	ENKTL, recurrent HLH	CD3⁻CD56⁺	Skin, CD3⁺GrB⁺
Pt 3.7	Sub-Saharan African	33	ENKTL, HMG-SMG, bicytopenia, weight loss, fever	CD3⁻CD16⁺	Spleen, CD3⁺CD5⁻GrB⁻
Pt 3.8	North-African	43	Disseminated ENTKL, nasal type, recurrent fever and skin rashes, asymptomatic nasal cavity involvement (on biopsy)	CD3⁻CD16⁺	Skin, nasal cavity, CD16⁺CD56⁻
CAEBV, systemic EBV-positive T-cell lymphoma of childhood, EBV-positive CD8⁺ HLH
Pt 4.1	Caucasian	4	Systemic EBV⁺ T-cell lymphoma of childhood	CD8⁺	Lymph node, CD8⁺
Pt 4.2	Caucasian	9	EBV⁺ CD8⁺ HLH during primary infection	CD8⁺	Bone marrow, CD8⁺
Pt 5.1	Caucasian	12	Hydroa vacciniforme	TCRγδ⁺	NP
Pt 5.2	Caucasian	5	Hydroa vacciniforme	TCRγδ⁺	NP
Pt 5.3	North African	40	Hydroa vacciniforme	TCRγδ⁺	NP
Pt 6.1	North African	3	Systemic T/NK cell CAEBV, mucocutaneous lymphoproliferation	CD8⁺, NK	Skin, CD8⁺
Pt 6.2	Turkish	15	Systemic T/NK cell CAEBV, recurrent HMG and fever	NK	Liver, CD3⁺
Pt 6.3	Sub-Saharan African	14	Systemic T/NK cell CAEBV, IBD	NK	Gut, CD3⁺
Pt 6.4	North African	7	Systemic T/NK cell CAEBV, mucocutaneous lymphoproliferation	CD4⁺; TCRγδ⁺	Lymph node, CD4⁺
Pt 6.5	North African	22	Systemic T/NK cell CAEBV, large-vessel vasculitis	TCRγδ⁺	NP
Pt 6.6	Sub-Saharan African	11	Systemic T/NK cell CAEBV, large-vessel vasculitis	CD3^lowCD4⁻CD8⁻ TCRγδ⁻	NP
Pt 6.7	Pakistani	6	Persistent peripheral EBV load after rituximab, CD137/4-1BB deficiency (TNFRSF9 hmz mutation: c.170delG/p.G57fsX91)	CD8⁺	NP
Pt 6.8	Caucasian	10	Systemic T/NK cell CAEBV, recurrent HMG and fever	CD8⁺	Liver, CD3⁺
Pt 6.9	Caucasian	35	Systemic T/NK cell CAEBV, indolent floor of the mouth tumor	CD4⁺	Floor of the mouth, CD4⁺
Pt S5	North African	52	Systemic T/NK cell CAEBV, chronic liver disease, SMG	CD4⁺; TCRγδ⁺	NP

Patient	Ethnicity/origin	Age at onset (yr)	Clinical manifestations/genetic defects	PrimeFlow: EBV⁺ subset	Histology: EBV⁺ subset
IM
Pt. 1.1	Caucasian	26	IM	Absent	NP
Pt 1.2	Caucasian	13	IM	Absent	NP
Pt 1.3	Caucasian	32	IM	Absent	NP
Pt 1.4	Sub-Saharan African	8	Severe IM (SMG and compressive lymph nodes requiring ventilation support)	CD19⁺	Tonsils and lymph node, CD79a⁺
Pt 1.5	Caucasian	23	Severe IM (SMG, thrombopenia)	CD19⁺	NP
B cell LPD
Pt 2.1	North African	7	Classical Hodgkin lymphoma	Absent	Lymph node CD30⁺CD15⁺
Pt 2.2	Caucasian	26	Classical Hodgkin lymphoma	Absent	Lymph node (EBER not performed)
Pt 2.3	Sub-Saharan African	17	Classical Hodgkin lymphoma, HLH	CD19⁺	Lymph node CD30⁺CD15⁺
Pt 2.4	Caucasian	1	Liver transplantation, PTLD, high peripheral EBV load	CD19⁺	NP
Pt S4	North African	5	Fulminant IM	CD19^−/low	Lymph node, CD79a⁺
Genetically characterized PIDs
Pt 2.5	North African	8	B-cell LPD, HMG, SMG, ADP, CD70 deficiency (TNFSF7 hmz mutation: c.535C>T/p.R179X)	CD19⁺	Lymph node, spleen, CD79a⁺
Pt 2.6	Comorian	14	Chronic peripheral EBV load without clinical LPD, ZAP-70 deficiency (ZAP70 hmz mutation: c.252C>G/p.C84W), strongly decreased protein expression	CD19⁺	NP
Pt 2.7	Caucasian	3	Chronic peripheral EBV load without clinical LPD, CTPS1 deficiency (CTPS1 hmz mutation: c.1692-1G>C/p.T566Dfs26X)	CD19⁺	NP
Pt 2.8	Caucasian	5	Primary EBV infection (ongoing), chronic hypogammaglobulinemia, MAGT1 deficiency (MAGT1 hmz mutation: c.991C>T/p;R331X), strongly decreased protein expression	CD19⁺	NP
Pt 2.9	Caucasian	16	Fulminant IM, XLP-1 (SH2D1A hemiZ mutation: c.257-264delCATTTCAG p.A86EfsX15)	CD19⁺	Liver, CD79a⁺
Pt 2.10	North-African	9	Fulminant IM, XLP-1 (SH2D1A hemizygous exons 1-4 deletion)	CD19⁺	NP
T cell PTLDs
Pt 3.1	Caucasian	2	HSCT for AML, persistent peripheral EBV load after rituximab	CD3⁺	NP
Pt 3.2	Caucasian	7	Cardiac transplantation, persistent peripheral EBV load after rituximab, hepatosplenomegaly, enlarged lymph nodes	CD8⁺	NP
Pt 3.3	Caucasian	2	Liver transplantation, persistent peripheral EBV load after rituximab, IBD	CD8⁺	Liver, bone marrow, gut CD8⁺
T/NK cell lymphomas
Pt 3.4	Caucasian	15	ENKTL, nasal type	Absent	Nasal cavity, CD3⁺CD5⁻CD56⁺
Pt 3.5	Caucasian	60	Angioimmunoblastic T cell lymphoma revealed by EBV⁺ LPD, eosinophilia with lung involvement	CD3⁻CD4⁺	Lymph node, CD3⁺CD4⁺
Pt 3.6	Caucasian	74	ENKTL, recurrent HLH	CD3⁻CD56⁺	Skin, CD3⁺GrB⁺
Pt 3.7	Sub-Saharan African	33	ENKTL, HMG-SMG, bicytopenia, weight loss, fever	CD3⁻CD16⁺	Spleen, CD3⁺CD5⁻GrB⁻
Pt 3.8	North-African	43	Disseminated ENTKL, nasal type, recurrent fever and skin rashes, asymptomatic nasal cavity involvement (on biopsy)	CD3⁻CD16⁺	Skin, nasal cavity, CD16⁺CD56⁻
CAEBV, systemic EBV-positive T-cell lymphoma of childhood, EBV-positive CD8⁺ HLH
Pt 4.1	Caucasian	4	Systemic EBV⁺ T-cell lymphoma of childhood	CD8⁺	Lymph node, CD8⁺
Pt 4.2	Caucasian	9	EBV⁺ CD8⁺ HLH during primary infection	CD8⁺	Bone marrow, CD8⁺
Pt 5.1	Caucasian	12	Hydroa vacciniforme	TCRγδ⁺	NP
Pt 5.2	Caucasian	5	Hydroa vacciniforme	TCRγδ⁺	NP
Pt 5.3	North African	40	Hydroa vacciniforme	TCRγδ⁺	NP
Pt 6.1	North African	3	Systemic T/NK cell CAEBV, mucocutaneous lymphoproliferation	CD8⁺, NK	Skin, CD8⁺
Pt 6.2	Turkish	15	Systemic T/NK cell CAEBV, recurrent HMG and fever	NK	Liver, CD3⁺
Pt 6.3	Sub-Saharan African	14	Systemic T/NK cell CAEBV, IBD	NK	Gut, CD3⁺
Pt 6.4	North African	7	Systemic T/NK cell CAEBV, mucocutaneous lymphoproliferation	CD4⁺; TCRγδ⁺	Lymph node, CD4⁺
Pt 6.5	North African	22	Systemic T/NK cell CAEBV, large-vessel vasculitis	TCRγδ⁺	NP
Pt 6.6	Sub-Saharan African	11	Systemic T/NK cell CAEBV, large-vessel vasculitis	CD3^lowCD4⁻CD8⁻ TCRγδ⁻	NP
Pt 6.7	Pakistani	6	Persistent peripheral EBV load after rituximab, CD137/4-1BB deficiency (TNFRSF9 hmz mutation: c.170delG/p.G57fsX91)	CD8⁺	NP
Pt 6.8	Caucasian	10	Systemic T/NK cell CAEBV, recurrent HMG and fever	CD8⁺	Liver, CD3⁺
Pt 6.9	Caucasian	35	Systemic T/NK cell CAEBV, indolent floor of the mouth tumor	CD4⁺	Floor of the mouth, CD4⁺
Pt S5	North African	52	Systemic T/NK cell CAEBV, chronic liver disease, SMG	CD4⁺; TCRγδ⁺	NP

Patients are numbered according to the figure number in which their PrimeFlow data are shown (first digit) and their place of appearance in the figure (second digit). GrB, granzyme B; hemiZ, hemizygous; HMG, hepatomegaly; hmz, homozygous; htz, heterozygous; IBD, inflammatory bowel disease; NP, not performed; PTCL-NOS, peripheral T cell lymphoma, not otherwise specified; SMG, splenomegaly.

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